Mutation Details for c.3700A>C
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cDNA Name
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c.3700A>C
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Protein Name
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p.Ile1234Leu
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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I1234L
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Other Details
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The polymorphism was identified by DGGE and direct sequencing of a carrier mother. Since it was not detected in her affected child, we concluded that it was a polymorphism.
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Contributors
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Férec C,
Verlingue C,
Mercier B,
Quere I
1996-09-05
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Institute
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Laboratoire de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The mutation was found in a CF suspected individual with sweat chloride 90 mmol/l. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#69)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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